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Disease‐specific phenotypes in iPSC‐derived neural stem cells with POLG mutations

Mutations in POLG disrupt mtDNA replication and cause devastating diseases often with neurological phenotypes. Defining disease mechanisms has been hampered by limited access to human tissues, particularly neurons. Using patient cells carrying POLG mutations, we generated iPSCs and then neural stem...

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Detalles Bibliográficos
Autores principales: Liang, Kristina Xiao, Kristiansen, Cecilie Katrin, Mostafavi, Sepideh, Vatne, Guro Helén, Zantingh, Gina Alien, Kianian, Atefeh, Tzoulis, Charalampos, Høyland, Lena Elise, Ziegler, Mathias, Perez, Roberto Megias, Furriol, Jessica, Zhang, Zhuoyuan, Balafkan, Novin, Hong, Yu, Siller, Richard, Sullivan, Gareth John, Bindoff, Laurence A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7539330/
https://www.ncbi.nlm.nih.gov/pubmed/32840960
http://dx.doi.org/10.15252/emmm.202012146